Guest guest Posted March 15, 2005 Report Share Posted March 15, 2005 If you haven't met an endo yet, do so. Almost all RSS-children I have met have been diagnosed by an endo. We got in contact with our endo the day after our son was born, due to severe hypospadia. The pedriatric wasn't sure enough to tell us the sex, so he contacted the endo. Fortunately this endo is the person who cares for most of the RSS-children in this part of the country. So at 4 months, he told us he thinks Victor has RSS, which we had never heard of. " I will give you an information leaflet about this and you can see if you agree " , he said. There is no test to be done to verify RSS, but we have never had any doubt that this was the right diagnosis. Good luck! /Camilla > > My son has not been diagnosed with rss yet, but he seems to have the > characteristics. We have ben through soooo many tests. How were your > children diagnosed??? Thanks Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 15, 2005 Report Share Posted March 15, 2005 My son completely plateaued on the growth chart, and his geneticist said that he possibly had RSS, this was after talking about all kinds of syndromes such as Aarskogg and Robinow, so I wasn't convinced. Then after reading about RSS he completely matched the description. So, I took him to the convention to see Dr. H (she's awesome!) and she confirmed the diagnosis. He also got the UPD-7 test, and it was normal, so he was diagnosed completely based on features and size. I hope this helps! le mom to Datreon, RSS, 18months, 16lb 2oz, 27in Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 15, 2005 Report Share Posted March 15, 2005 Sadly or happily -- no tests will diagnose RSS. You need a children's clinical geneticist (preferably one at a good children's hospital). Or Dr. Madeleine Harbison, HA! I say ha, because she is a pediatric endocrinologist at Mt. Sinai who has about 130 kids with RSS as her patients. (Most endos might have 2, maybe 5???) Most of our kids were diagnosed by a geneticist (but some incorrectly, as RSS can be tough to diagnose with milder kids). And many of us had reconfirmed diagnoses at the MAGIC convention. Make sure to go to www.magicfoundation.org and read about the summer convention. We have about 120 families come with their kids, we listen to presentations on RSS and SGA (most of our children were born small-for-gestational-age -- less than 5lb 2oz full-term at birth). A small subgroup of SGA-born newborns never catchup in growth and are called short SGA. These short SGA kids share most major functional abnormalities and many characteristics with RSS kids, and the treatment options are the same. So at MAGIC, the division is called RSS/SGA. Anyway, at the convention, Dr. Harbison flies in and provides free 30-minute consultations to new families. All day Tuesday, Wed and Thurs before the convention, so you have to come a bit early but well worth it to get a confirmed diagnosis and major advice. Can you share any info about your son? Birth info, where he is at now in growth? My daughter just turned 9. Typing quickly, she was born fullterm 5lbs 17 inches long; a shock because my husband is 6'4 " and I am a normal 5'4 " . Followed her own curve for a while -- by 18 months the failure to thrive was too obvious to ignore as her 5 month old brother was gaining on her. At 2 she was diagnosed, and her 1 year old brother weighed the same. At 4 1/2, we would MAGIC and Dr. H. She was 27 pounds and 38 inches tall at about 4 yrs 9 months when we started Dr. H's treatment protocol. Step by step, 4 years later, she is now 53 inches tall??, 60 pounds!!!! who would have ever thought, and is at the 65th percentile in height. She is on growth hormone injections daily, and several medications to resolve the reflux and delayed gastric emptying/constipation that is typical of these kids. She is academically gifted (so much for some of that literature saying there can be problems), and she plays soccer and softball. It was a struggle when she was young but it is definitely getting easier. Salem > > My son has not been diagnosed with rss yet, but he seems to have the > characteristics. We have ben through soooo many tests. How were your > children diagnosed??? Thanks Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 15, 2005 Report Share Posted March 15, 2005 Hello, My daughter has been diagnosed by one endo and gastrotologist as having RSS, however her pediatrician and genetics doctor is not convinced. They all agree that she is sga, so we go with that SGA because the treatment is the same. Since Birth she had reflux though the doctor said it's normal, she would get colds flu, she had torticaulis( spelling aweful) extrememly low muscle tone. Would turn at 7months, walk at 17months, still unable to hold pen to write a letter she is 4 now but has made huge progress. I am very obese, my husband small, we were told she will be small like him don't worry even though i knew something was funny but i listened then when she was almost 2 and she lost weight fell off of her chart more than before( switching doctors) they said we need to find out whats going on so we started down the road of every doctor......to her Gastro doctor telling us about the magic foundation and reseach....to more tests. I wish i found out earlier because when she was little and not eating i would pushed to see her gastro sooner. She was on Pedisure for almost 2 years. her pediatrician wants her off and see what she does on her own. So far ok, we go in a few weeks for a weight. There are wonderful people on this list serve to help believe me they have helped me help na. Where do you live? Marcy nas mom 4yr 27lbs 35inches mjmjm_mom wrote: My son has not been diagnosed with rss yet, but he seems to have the characteristics. We have ben through soooo many tests. How were your children diagnosed??? Thanks Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 15, 2005 Report Share Posted March 15, 2005 Hi, Sorry, I didn't get your name. Where do you live? I ask because maybe some one on this list lives near you and maybe they can suggest a doctor. In our case, my son's pediatrician noticed that he wasn't growing properly. She sent us to a pediatric endocrinologist. This doctor suggested a diagnosis of RSS, which is a genetic growth disorder. In order to get an official diagnosis, we then had to go to a geneticist. He " confirmed " / diagnosed my son as having RSS and sent us back to the pediactric endocrinologist for treatment. As some one mentioned before, there is no test for RSS. So it is a best guess. Many tests can be done to eliminate other medical conditions, leaving RSS as the only logical explanation for lack of appetite and growth. I hope this helps. Ken M > > My son has not been diagnosed with rss yet, but he seems to have the > characteristics. We have ben through soooo many tests. How were your > children diagnosed??? Thanks Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 16, 2005 Report Share Posted March 16, 2005 Our son was tested in the hospital for three days to find nothing wrong and then his Pediatrician at the time had attended a seminar given by Dr. H. and then started making the connections to RSS. We then went to see an endo who had 5 RSS patients and he confirmed for us. I hope I can help in any way. I live in NJ near Manhatten and have been to Cornell, Nyack and Columbia Presbyterian several times to meet with several doctors. My son's endo and gastro are great. M. - mom to Colin- 4 RSS and Gillian 8 1/2 months non- RSS > My son completely plateaued on the growth chart, and his geneticist said > that he possibly had RSS, this was after talking about all kinds of syndromes > such as Aarskogg and Robinow, so I wasn't convinced. Then after reading about > RSS he completely matched the description. So, I took him to the convention to > see Dr. H (she's awesome!) and she confirmed the diagnosis. He also got the > UPD-7 test, and it was normal, so he was diagnosed completely based on > features and size. I hope this helps! > le mom to Datreon, RSS, 18months, 16lb 2oz, 27in > > > Quote Link to comment Share on other sites More sharing options...
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